| Literature DB >> 30344752 |
Ling Peng1, Zhu Zeng1, Xiaodong Teng2, Zhen Chen2, Lili Lin3, Hua Bao4, Yang W Shao4, Yina Wang1, Yongquan Dong5, Qiong Zhao1.
Abstract
Synchronous multiple primary malignant tumors (MPMTs) are rare in young adults. Genomic profiling of synchronous MPMTs has not been systematically investigated to elucidate their genetic associations, but may be important to assist diagnosis and guide appropriate treatment strategy. In the present study, mutation profiling was performed using targeted next generation sequencing (NGS) on 416 cancer-related genes in synchronous triple primary tumors of the lung, kidney and thyroid in a 32-year-old female patient. The patient was diagnosed with moderately differentiated lung adenocarcinoma (T2aN0M0; stage IB), renal clear cell carcinoma (T1aN0M0; stage I), and thyroid papillary carcinoma (T1N1aM0, stage III) by pathological assessments. Clinically actionable mutations in EGFR and BRAF genes were identified in the lung and the thyroid lesions, respectively. Three tumors demonstrated distinct genomic profiles, suggesting that all tumors were independent primary tumors, which was consistent with histopathological assessment. Three potential germline cancer susceptibility mutations were shared between this patient and her father who was diagnosed with lung cancer. The present results demonstrated that, in the context of identical germline background and environmental exposure, multiple synchronous tumors in the same patient may have distinct mutation profiles and can be driven by distinct molecular events. Combination therapies may need to be considered during treatment decision-making.Entities:
Keywords: inherited cancer susceptibility; multiple primary malignant tumors; mutation profiling; next generation sequencing; synchronous carcinoma
Year: 2018 PMID: 30344752 PMCID: PMC6176354 DOI: 10.3892/ol.2018.9334
Source DB: PubMed Journal: Oncol Lett ISSN: 1792-1074 Impact factor: 2.967